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Parents find inspiration in difficult diagnosis

7:49 PM, Oct 29, 2012   |    comments
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JACKSONVILLE, Fla. -- When Tiffany Stevens first held her twin boys, she did what every mother does, counts ten fingers and ten toes. She and her then husband Randy had two beautiful twin boys.

"That's the wild child, we call him crazy Carter and this is sweet Seth," said Tiffany describing her boys' personalities.

But before the boys' first birthday, Randy and Tiffany began to notice something wasn't right.

"They just kept getting further and further behind," explained Tiffany. That was the start of a four year journey, bouncing between hospitals and doctors. Randy and Tiffany refused to give up until they had an answer as to why Seth and Carter were not developing like other children their age.

"In December of last year is when we actually got a diagnosis," said Tiffany.

Seth and Carter had Pitt-Hopkins Syndrome, a very rare genetic condition. It was just discovered in 1978, so there is still a lot not known about it.

According to the National Institute of Health, one laboratory estimated that the frequency of Pitt-Hopkins Syndrome is one in 34,000 or one in 41,000. It is even more rare for the syndrome to appear in twins.

Theresa Pauca, one of the managers of the Pitt-Hopkins Syndrome International Network, said Seth and Carter are the only case of identical twins in their network. The only other case of twins with Pitt-Hopkins Syndrome within their network is a family with fraternal twins in Pennsylvania. 

Children with Pitt-Hopkins have serious difficulty walking, respiratory problems, difficulty eating and often cannot speak among other things.

"They are going to look at something, then look at you, they are going to clap, they are going to reach," explained Tiffany.

"You just have to learn to listen with your eyes," added Randy.

Randy and Tiffany push their boys to learn and go beyond their prognosis because every small step is a huge milestone for Seth and Carter. Yet, Randy and Tiffany don't want people to pity them, they want Seth and Carter to be an inspiration to others facing challenges in their lives.

"Every time I see them do something new or see something click it is like, this is what we do this for," said Randy.

Right now there is no medication or treatment for Pitt-Hopkins Syndrome other than the various physical, speech and occupational therapies Seth and Carter undergo.  Which is why Randy and Tiffany have started fundraising for Pitt-Hopkins research.

"Because they are trying to learn more about it so they can maybe reverse some of the side effects," explained Tiffany.

Sweet Seth and Crazy Carter are two, one-a-kind little boys. Yet, above all else, they are just that. Little boys, who love the movie Mulan and being outside and give their parents lives a sense of purpose.

"Be advocates for our kids and Pitt-Hopkins and make sure this helps somebody else in the future, just with anything," said Randy.

If you would like to donate to Pitt-Hopkins Syndrome research follow this link:

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